In Their Own Words:
New York City
Disease: Leber congenital amaurosis (LCA), a retinal degenerative disease characterized by severe loss of vision at birth. Allison’s condition is caused by a defect in the RPE65 gene, which qualified her for participation in a Phase III clinical trial testing a gene therapy made possible by Foundation funding. The treatment, conducted at the Children’s Hospital of Philadelphia, has restored some of Allison’s vision.
Diagnosis and Vision: I was officially diagnosed at the age of 3, and early on, I went to a special school. But in 2nd grade, I moved to a regular district school, where I had a one-on-one aide, which made it not so bad. Middle school was harder. Friends from elementary school had moved away, so I had to make new friends, which wasn’t easy because I used a cane. I was known as “the blind girl.”
In high school, I made new friends and stopped using the cane because I was able to get around without it. Plus, I wanted people to see Allison first, not a visually impaired person.
When I started college, it was back to the cane. The campus was so much bigger and harder to navigate. It was very hard to socialize. The cafeteria was dark, and I was afraid to go there. I didn’t want to stay after classes or be in any clubs, because I was scared I’d get lost. Eventually, I stopped going to college.
Gene Therapy Treatment: I was 20 when I got called for the trial at CHOP, a Phase III clinical trial, which is the last one. [The first began in 2008.] I was the first person to have both eyes treated within a 10-day period. After having the first operated on, it was a rough few days. I had trouble with the anesthesia, and it was difficult adjusting to the air bubble injected in my eye to keep the treatment in place. I was anxious about doing the second eye in a few days.
But then I went to mass with my family Sunday morning and realized, even though things were a bit distorted, that I could see people. I could tell if they were a man or a woman and see what they were wearing. That wasn’t possible before.
So when I went back for treatment on my second eye, I told the nurse, “I want to see with my other eye what I’m seeing with this one!”
The Future: I lived 20 years of my life without functional vision, and I’ve only had vision in both eyes for one year, but I can’t remember what it was like before. I don’t see perfectly, but I’m not scared to walk by myself at night. I can see the cars and the lights.
I’m not afraid in general. I used to be pretty uptight. I was scared to walk away from my parents in a store, thinking I wouldn’t find my way back. But I went back to college, where I’m studying social work and don’t need a cane anymore. I now take my father to restaurants, and when he forgets his glasses, I read the menu to him.
The treatment, which the Foundation funded from the very beginning, has been life-changing. I now have confidence in myself. I’m much more independent. I want to travel the world and see all the beautiful things I’ve missed.
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